RBM10
小结
RBM10是抑癌基因，编码蛋白是核蛋白，属于具有RNA结合基序的蛋白质家族，其涉及调节mRNA选择性剪接，最近，RBM10已被证明调节两个参与细胞凋亡的基因（FAS和Bcl-X）的选择性剪接。导致RBM10蛋白截短的突变被鉴定为引起TARP综合征（马蹄内翻足、心房中隔缺损、罗宾序列和持续性左上腔静脉）的原因，据报道，其在受影响的男性中引起了出生前或出生后的死亡。RBM10是肺腺癌中最常见的突变基因之一，在乳腺、结肠、卵巢、胰腺和前列腺癌中也观察到该基因的突变。
RBM10 encodes a nuclear protein that belongs to a family of proteins with RNA-binding motif. RBM10 is located on the X chromosome and therefore subject to X-inactivation whereby the remaining active allele is widely expressed in human cell lines and tissues. Mutations that result in a truncated RBM10 protein are identified as the causes of TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) syndrome, which has been reported to cause pre- or postnatal death in affected males. RBM10 was discovered to be among the most frequently mutated genes in lung adenocarcinoma samples; mutations in this gene have also been observed in breast, colon, ovary, pancreas and prostate cancers. RBM10 has been characterized as an RNA-binding protein both in vitro and in vivo, and identified as an important regulator of alternative splicing. Recently, RBM10 has been shown to regulate alternative splicing of FAS and Bcl-X, two genes involved in apoptosis.